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Items: 1 to 100 of 180

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
CD79B, GH-LCR
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CD79B, GH-LCR
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CD79B, GH-LCR
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
CD79B, GH-LCR
(G124S +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(V222L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD79B, GH-LCR
(V118I +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(G113R +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
+1 more
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(R215Q +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(T109M +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(E198Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD79B, GH-LCR
(Y196H +3 more)
Single nucleotide variant
(missense variant)
Malignant lymphoma, large B-cell, diffuse
GLikely pathogenic
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(T195S +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(E192Q +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(A188G +3 more)
Indel
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(S82N +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(D185E +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GBenign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GBenign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
not provided
GBenign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Deletion
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GBenign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(K184E +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(L181Q +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(V72M +3 more)
Single nucleotide variant
(missense variant)
CD79B-related disorder
+1 more
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(T167M +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(I162V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(T52M +3 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
GH-LCR, CD79B
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Indel
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(intron variant)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(M143I +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(R142Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(G137S +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GPathogenic
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(S130L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(N127D +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(C122del +1 more)
Deletion
(inframe_deletion +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(F121C +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(F114C +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(R113Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CD79B, GH-LCR
(Q111R +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
GH-LCR, CD79B
(T108I +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
(T106I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
+1 more
GBenign
CD79B, GH-LCR
(E103K +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
CD79B, GH-LCR
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GLikely benign
CD79B, GH-LCR
(Q100R +1 more)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 6, autosomal recessive
GUncertain significance
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